EAHAD Factor VIII Variant Database
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Search Results: 4 unique variants retrieved


  c.1309C>T
p.(Arg437Trp) (Legacy AA No.418)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGG > TGG
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1310delG
p.(Arg437Argfs*19) (Legacy AA No.418)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 9
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 9
Individual Case Information : Show

  c.1310G>A
p.(Arg437Gln) (Legacy AA No.418)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGG > CAG
Variant Effect:
Missense
Location:
Exon 9
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1310G>C
p.(Arg437Pro) (Legacy AA No.418)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGG > CCG
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show